Canonical Allele Identifier: CA4711170

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 1902272
• ClinVar RCV Id: RCV002580158
• dbSNP Id: rs767114174
• ExAC: 8:37623280 AAT / A
• gnomAD v2: 8-37623280-AAT-A
• gnomAD v3: 8-37765762-AAT-A
• gnomAD v4: 8-37765762-AAT-A
• MyVariant Identifiers: chr8:g.37623281_37623282del (hg19) ; chr8:g.37765763_37765764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765763_37765764del , CM000670.2:g.37765763_37765764del	GRCh38
NC_000008.10:g.37623281_37623282del , CM000670.1:g.37623281_37623282del	GRCh37
NC_000008.9:g.37742439_37742440del	NCBI36
NG_053030.1:g.9011_9012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.243+17_243+18del MANE Select	ENSP00000333551.3:n.243+17_243+18del
ENST00000328195.7:c.243+17_243+18del	ENSP00000333551.3:n.243+17_243+18del
ENST00000518036.5:c.*95+17_*95+18del	ENSP00000428005.1:n.*95+17_*95+18del
ENST00000520073.5:n.308+17_308+18del
ENST00000523187.5:c.87+17_87+18del	ENSP00000427886.1:n.87+17_87+18del
ENST00000523358.5:c.243+17_243+18del	ENSP00000427778.1:n.243+17_243+18del
ENST00000523994.1:n.248+17_248+18del
NM_007198.3:c.243+17_243+18del	NP_009129.1:n.243+17_243+18del
NM_001349346.1:c.243+17_243+18del	NP_001336275.1:n.243+17_243+18del
NM_001349347.1:c.237+17_237+18del	NP_001336276.1:n.237+17_237+18del
NM_001349348.1:c.87+17_87+18del	NP_001336277.1:n.87+17_87+18del
NM_001349349.1:c.348+17_348+18del	NP_001336278.1:n.348+17_348+18del
NM_007198.4:c.243+17_243+18del MANE Select	NP_009129.1:n.243+17_243+18del
NM_001349346.2:c.243+17_243+18del	NP_001336275.1:n.243+17_243+18del
NM_001349347.2:c.237+17_237+18del	NP_001336276.1:n.237+17_237+18del
NM_001349348.2:c.87+17_87+18del	NP_001336277.1:n.87+17_87+18del